Literature DB >> 3130866

Autopsy findings in two adult siblings with Coffin-Lowry syndrome.

G A Machin1, G L Walther, V M Fraser.   

Abstract

We describe the major autopsy findings in two adult sibs of the original pedigree of Lowry et al [Am J Dis Child 121:496-500, 1971]. These results support the idea that Coffin-Lowry syndrome is a systemic connective tissue disorder. Visceral neuropathy was also noted as the basis of extensive intestinal diverticular disease.

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Year:  1987        PMID: 3130866     DOI: 10.1002/ajmg.1320280536

Source DB:  PubMed          Journal:  Am J Med Genet Suppl        ISSN: 1040-3787


  8 in total

Review 1.  Diverticulosis today: unfashionable and still under-researched.

Authors:  Antonio Tursi
Journal:  Therap Adv Gastroenterol       Date:  2016-03       Impact factor: 4.409

2.  Midgut volvulus due to jejunal diverticula: a case report.

Authors:  Jia-Li Hu; Wei-Zhong Chen
Journal:  World J Gastroenterol       Date:  2012-10-28       Impact factor: 5.742

3.  Mitral and tricuspid valve surgery for Coffin-Lowry syndrome.

Authors:  Takeshi Yoshida; Takeki Ohashi; Masato Furui; Souichirou Kageyama; Noriko Kodani; Yutaka Kobayashi; Yasutaka Hirai; Reo Sakakura
Journal:  Gen Thorac Cardiovasc Surg       Date:  2013-07-20

Review 4.  Coffin-Lowry syndrome: clinical and molecular features.

Authors:  A Hanauer; I D Young
Journal:  J Med Genet       Date:  2002-10       Impact factor: 6.318

Review 5.  The genetic epidemiology of diverticulosis and diverticular disease: Emerging evidence.

Authors:  Matthias C Reichert; Frank Lammert
Journal:  United European Gastroenterol J       Date:  2015-10       Impact factor: 4.623

Review 6.  Diet, ageing and genetic factors in the pathogenesis of diverticular disease.

Authors:  Daniel Martin Commane; Ramesh Pulendran Arasaradnam; Sarah Mills; John Cummings Mathers; Mike Bradburn
Journal:  World J Gastroenterol       Date:  2009-05-28       Impact factor: 5.742

7.  Colonic Diverticulosis. Is there a Genetic Component?

Authors:  Ana Maria Miulescu
Journal:  Maedica (Bucur)       Date:  2020-03

8.  Epidemiology and risk factors for diverticular disease.

Authors:  Alessandra Violi; Ginevra Cambiè; Chiara Miraglia; Alberto Barchi; Antonio Nouvenne; Mario Capasso; Gioacchino Leandro; Tiziana Meschi; Gian Luigi De' Angelis; Francesco Di Mario
Journal:  Acta Biomed       Date:  2018-12-17
  8 in total

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